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X
Maltese, Paolo Enrico
112  Ergebnisse:
OpenAccess-Volltexte X
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1

Retinitis Pigmentosa Associated with EYS Gene Mutations: Di..:

Placidi, Giorgio ; Maltese, Paolo Enrico ; Savastano, Maria Cristina...
info:eu-repo/semantics/altIdentifier/pmid/36899994.  , 2023
Link: https://hdl.handle.net/1..
 
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2

Genetic Analysis of Patients with Congenital Hypogonadotrop..:

Cannarella, Rossella ; Gusmano, Carmelo ; Condorelli, Rosita A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10138801/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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3

Genetics of Inherited Retinal Diseases in Understudied Ethn..:

Maltese, Paolo Enrico ; Colombo, Leonardo ; Martella, Salvatore...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9274138/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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4

Editorial: The genetics of inherited retinal diseases in un..:

El Shamieh, Said ; Maltese, Paolo Enrico
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9445133/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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5

Genetic characteristics of 234 Italian patients with macula..:

Falsini, Benedetto ; Placidi, Giorgio ; De Siena, Elisa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8904500/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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6

USH2A-Related Retinitis Pigmentosa: Staging of Disease Seve..:

Falsini, Benedetto ; Placidi, Giorgio ; De Siena, Elisa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912870/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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7

Expanding the clinical and genetic spectrum of RAB28-relate..:

Iarossi, Giancarlo ; Marino, Valerio ; Maltese, Paolo Enrico...
info:eu-repo/semantics/altIdentifier/pmid/33396523.  , 2021
Link: http://hdl.handle.net/11..
 
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8

A Novel GUCA1A Variant Associated with Cone Dystrophy Alter..:

Biasi, Amedeo ; Marino, Valerio ; Dal Cortivo, Giuditta...
info:eu-repo/semantics/altIdentifier/pmid/34639157.  , 2021
Link: http://hdl.handle.net/11..
 
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9

Impaired Ca(2+) Sensitivity of a Novel GCAP1 Variant Causes..:

Marino, Valerio ; Dal Cortivo, Giuditta ; Maltese, Paolo Enrico...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8070792/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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10

Imbalance between Expression of FOXC2 and Its lncRNA in Lym..:

Missaglia, Sara ; Tavian, Daniela ; Michelini, Sandro...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8146868/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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11

A Novel GUCA1A Variant Associated with Cone Dystrophy Alter..:

Biasi, Amedeo ; Marino, Valerio ; Dal Cortivo, Giuditta...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8509414/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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12

Variant Selection and Interpretation: An Example of Modifie..:

Cristofoli, Francesca ; Sorrentino, Elisa ; Guerri, Giulia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700904/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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13

Impaired Ca2+ sensitivity of a novel GCAP1 variant causes c..:

Marino, Valerio ; Dal Cortivo, Giuditta ; Maltese, Paolo Enrico...
info:eu-repo/semantics/altIdentifier/pmid/33919796.  , 2021
Link: http://hdl.handle.net/11..
 
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14

Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene ..:

Michelini, Sandro ; Chiurazzi, Pietro ; Marino, Valerio...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503355/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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15

Aldo-Keto Reductase 1C1 (AKR1C1) as the first mutated gene ..:

Michelini, Sandro ; Chiurazzi, Pietro ; Marino, Valerio...
info:eu-repo/semantics/altIdentifier/pmid/32872468.  , 2020
Link: http://hdl.handle.net/11..
 
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